A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes
作者：Xiaolei Tang, Shunying Zhao, Yuelin Shen, Yu Tang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaoyan Zhang, Xiao Li, Yanqiong Wang, Haiming Yang · 发表于：The Italian Journal of Pediatrics/Italian journal of pediatrics · 年份：2025 · DOI：10.1186/s13052-025-02110-8 · 被引用次数：2 · 研究领域：Neonatal Respiratory Health Research、Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis、Asthma and respiratory diseases
BACKGROUND: Surfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences in clinical presentations and prognostic outcomes across these genotypes are not well understood, warranting comparative analysis. METHODS: We conducted a retrospective cohort study of 22 children with genetically confirmed surfactant dysfunction disorders (11 SFTPC, 5 ABCA3, 6 NKX2-1). Comprehensive evaluations included clinical features, high-resolution computed tomography (HRCT), serum Krebs von den Lungen-6 antigen (KL-6) levels, autoantibody profiles, immune function assessments, bronchoalveolar lavage fluid analysis, echocardiography, pathology, genetic testing, treatment regimens, and outcomes. RESULTS: The median age at onset was 0.7 years, with the earliest onset in the NKX2-1 group (0.4 years) and the latest in the ABCA3 group (1.7 years). At presentation, the SFTPC group had the lowest respiratory symptom scores, followed by the ABCA3 group, while the NKX2-1 group showed the highest scores (P = 0.034). Pulmonary hypertension prevalence varied significantly among groups (P = 0.005), being highest in the NKX2-1 group (66.7%) and absent in the SFTPC group. KL-6 levels were lowest in the SFTPC group (1302 U/mL), intermediate in the ABCA3 group (4780 U/mL), and highest in the NKX2-1 group (6106.5 U/mL) (P = 0.064). Positive autoantibodies were detected in...